LOCUS       NM_000354               2360 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens serpin family A member 7 (SERPINA7), mRNA.
ACCESSION   NM_000354
VERSION     NM_000354.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2360)
  AUTHORS   Heo,J., Kim,S.M., Ryu,H.J., Park,H., Kim,T.H., Chung,J.H.,
            Park,H.D. and Kim,S.W.
  TITLE     Identification of Mutations in the Thyroxine-Binding Globulin (TBG)
            Gene in Patients with TBG Deficiency in Korea
  JOURNAL   Endocrinol Metab (Seoul) 37 (6), 870-878 (2022)
   PUBMED   36475360
  REMARK    GeneRIF: Identification of Mutations in the Thyroxine-Binding
            Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.
REFERENCE   2  (bases 1 to 2360)
  AUTHORS   Gawandi,S., Jothivel,K. and Kulkarni,S.
  TITLE     Identification of a novel mutation in thyroxine-binding globulin
            (TBG) gene associated with TBG-deficiency and its effect on the
            thyroid function
  JOURNAL   J Endocrinol Invest 45 (4), 731-739 (2022)
   PUBMED   34761328
  REMARK    GeneRIF: Identification of a novel mutation in thyroxine-binding
            globulin (TBG) gene associated with TBG-deficiency and its effect
            on the thyroid function.
REFERENCE   3  (bases 1 to 2360)
  AUTHORS   Cao,L., Lou,X., Zhou,L. and Wu,Y.
  TITLE     The decrease of T3 / T4 is not hypothyroidism - a new mutation of
            Serpina7 gene results in partial thyroglobulin deficiency
  JOURNAL   Pharmazie 76 (9), 428-430 (2021)
   PUBMED   34481533
  REMARK    GeneRIF: The decrease of T3 / T4 is not hypothyroidism - a new
            mutation of Serpina7 gene results in partial thyroglobulin
            deficiency.
REFERENCE   4  (bases 1 to 2360)
  AUTHORS   Fang,Y., Chen,H., Chen,Q., Wang,C. and Liang,L.
  TITLE     Compound hemizygous variants in SERPINA7 gene cause
            thyroxine-binding globulin deficiency
  JOURNAL   Mol Genet Genomic Med 9 (2), e1571 (2021)
   PUBMED   33554479
  REMARK    GeneRIF: Compound hemizygous variants in SERPINA7 gene cause
            thyroxine-binding globulin deficiency.
REFERENCE   5  (bases 1 to 2360)
  AUTHORS   Chen,L.D., Lu,H.J., Gan,Y.L., Pang,S.W., Zheng,Q., Ye,D.M.,
            Huang,X.Y., Qi,H.N., Xu,W.B., Wen,X.Z., Li,L.H. and Li,L.
  TITLE     Partial thyroxine-binding globulin deficiency in a family with
            coding region mutations in the TBG gene
  JOURNAL   J Endocrinol Invest 43 (12), 1703-1710 (2020)
   PUBMED   32266677
  REMARK    GeneRIF: Partial thyroxine-binding globulin deficiency in a family
            with coding region mutations in the TBG gene.
REFERENCE   6  (bases 1 to 2360)
  AUTHORS   Shirotani,T., Kishikawa,H., Wake,N., Miyamura,N., Hashimoto,Y.,
            Motoyoshi,S., Yamaguchi,K. and Shichiri,M.
  TITLE     Thyroxine-binding globulin variant (TBG-Kumamoto): identification
            of a point mutation and genotype analysis of its family
  JOURNAL   Endocrinol Jpn 39 (6), 577-584 (1992)
   PUBMED   1294376
REFERENCE   7  (bases 1 to 2360)
  AUTHORS   Bertenshaw,R., Sarne,D., Tornari,J., Weinberg,M. and Refetoff,S.
  TITLE     Sequencing of the variant thyroxine-binding globulin (TBG)-San
            Diego reveals two nucleotide substitutions
  JOURNAL   Biochim Biophys Acta 1139 (4), 307-310 (1992)
   PUBMED   1515456
REFERENCE   8  (bases 1 to 2360)
  AUTHORS   Imamura,S., Mori,Y., Murata,Y., Yamamori,I., Miura,Y., Oiso,Y.,
            Seo,H., Matsui,N. and Refetoff,S.
  TITLE     Molecular cloning and primary structure of rat thyroxine-binding
            globulin
  JOURNAL   Biochemistry 30 (22), 5406-5411 (1991)
   PUBMED   1903654
REFERENCE   9  (bases 1 to 2360)
  AUTHORS   Bertenshaw,R., Takeda,K. and Refetoff,S.
  TITLE     Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec
            reveals two nucleotide substitutions
  JOURNAL   Am J Hum Genet 48 (4), 741-744 (1991)
   PUBMED   1901689
REFERENCE   10 (bases 1 to 2360)
  AUTHORS   Cheng,S.Y.
  TITLE     Partial amino acid sequence of human thyroxine-binding globulin.
            Further evidence for a single polypeptide chain
  JOURNAL   Biochem Biophys Res Commun 79 (4), 1212-1218 (1977)
   PUBMED   414747
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BJ996322.1, BC020747.2,
            T78892.1 and Z83850.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_000354.5.
            
            Summary: There are three proteins including thyroxine-binding
            globulin (TBG), transthyretin and albumin responsible for carrying
            the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine
            (T3) in the bloodstream. This gene encodes the major thyroid
            hormone transport protein, TBG, in serum. It belongs to the serpin
            family in genomics, but the protein has no inhibitory function like
            many other members of the serpin family. Mutations in this gene
            result in TGB deficiency, which has been classified as partial
            deficiency, complete deficiency, and excess, based on the level of
            serum TBG. Alternatively spliced transcript variants encoding
            different isoforms have been found, but the full-length nature of
            these variants has not been determined.[provided by RefSeq, Jun
            2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.119076.1,
                                           SRR5189664.65393.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372563.2/ ENSP00000361644.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                BJ996322.1         1-31
            32-1366             BC020747.2         1-1335
            1367-1596           T78892.1           5-234               c
            1597-2360           Z83850.1           122941-123704       c
FEATURES             Location/Qualifiers
     source          1..2360
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3"
     gene            1..2360
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="serpin family A member 7"
                     /db_xref="GeneID:6906"
                     /db_xref="HGNC:HGNC:11583"
                     /db_xref="MIM:314200"
     exon            1..30
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /inference="alignment:Splign:2.1.0"
     exon            31..669
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..1295
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="thyroxin-binding globulin; serpin peptidase
                     inhibitor, clade A (alpha-1 antiproteinase, antitrypsin),
                     member 7; serine (or cysteine) proteinase inhibitor, clade
                     A (alpha-1 antiproteinase, antitrypsin), member 7;
                     thyroxine-binding globulin; serpin A7; T4-binding
                     globulin; mutant serpin family A member 7"
                     /codon_start=1
                     /product="thyroxine-binding globulin precursor"
                     /protein_id="NP_000345.2"
                     /db_xref="CCDS:CCDS14518.1"
                     /db_xref="GeneID:6906"
                     /db_xref="HGNC:HGNC:11583"
                     /db_xref="MIM:314200"
                     /translation="MSPFLYLVLLVLGLHATIHCASPEGKVTACHSSQPNATLYKMSS
                     INADFAFNLYRRFTVETPDKNIFFSPVSISAALVMLSFGACCSTQTEIVETLGFNLTD
                     TPMVEIQHGFQHLICSLNFPKKELELQIGNALFIGKHLKPLAKFLNDVKTLYETEVFS
                     TDFSNISAAKQEINSHVEMQTKGKVVGLIQDLKPNTIMVLVNYIHFKAQWANPFDPSK
                     TEDSSSFLIDKTTTVQVPMMHQMEQYYHLVDMELNCTVLQMDYSKNALALFVLPKEGQ
                     MESVEAAMSSKTLKKWNRLLQKGWVDLFVPKFSISATYDLGATLLKMGIQHAYSENAD
                     FSGLTEDNGLKLSNAAHKAVLHIGEKGTEAAAVPEVELSDQPENTFLHPIIQIDRSFM
                     LLILERSTRSILFLGKVVNPTEA"
     exon            670..943
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1091
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..2360
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1343..1348
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="hexamer: AATAAA"
     regulatory      1354..1359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="hexamer: AATATA"
     polyA_site      1365
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="major polyA site"
     polyA_site      1374
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="major polyA site"
     regulatory      1571..1576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="hexamer: AATAAA"
     polyA_site      1594
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
     regulatory      2335..2340
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="hexamer: AATAAA"
     polyA_site      2360
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
ORIGIN      
        1 gagatgcagg tggattcttg ggcatttgct attaacttcc ttccaaaatg tcaccattcc
       61 tgtatctggt tctcttggta cttgggcttc atgctacaat ccactgtgca tcacctgaag
      121 gcaaagtaac agcctgccat tcatcccaac caaatgccac tctctacaag atgtcatcca
      181 ttaatgctga ctttgcattc aatctgtacc ggaggttcac tgtggagacc ccagataaga
      241 acatcttctt ttcccctgtg agcatttctg cagctttggt tatgctttcc tttggggcct
      301 gctgcagcac ccaaactgag attgtggaga ccttggggtt caacctcaca gacactccaa
      361 tggtagagat ccagcatggc ttccagcatc tgatctgttc actgaatttt ccaaagaagg
      421 aactggaatt gcagatagga aatgccctct tcattggcaa gcatctgaaa ccactggcaa
      481 agttcttgaa tgatgtcaag accctctatg agactgaagt cttttctacc gacttctcca
      541 acatttctgc agccaagcag gagattaaca gtcatgtgga gatgcaaacc aaagggaaag
      601 ttgtgggtct aattcaagac ctcaagccaa acaccatcat ggtcttagtg aactatattc
      661 actttaaagc ccagtgggca aatccttttg atccatccaa gacagaagac agttccagct
      721 tcttaataga caagaccacc actgttcaag tgcccatgat gcaccagatg gaacaatact
      781 atcacctagt ggatatggaa ttgaactgca cagttctgca aatggactac agcaagaatg
      841 ctctggcact ctttgttctt cccaaggagg gacagatgga gtcagtggaa gctgccatgt
      901 catctaaaac actgaagaag tggaaccgct tactacagaa gggatgggtt gacttgtttg
      961 ttccaaagtt ttccatttct gccacatatg accttggagc cacacttttg aagatgggca
     1021 ttcagcatgc ctattctgaa aatgctgatt tttctggact cacagaggac aatggtctga
     1081 aactttccaa tgctgcccat aaggctgtgc tgcacattgg tgaaaaggga actgaagctg
     1141 cagctgtccc tgaagttgaa ctttcggatc agcctgaaaa cactttccta caccctatta
     1201 tccaaattga tagatctttc atgttgttga ttttggagag aagcacaagg agtattctct
     1261 ttctagggaa agttgtgaac ccaacggaag cgtagttggg aaaaaggcca ttggctaatt
     1321 gcacgtgtgt attgcaatgg gaaataaata aataatatag cctggtgtga ttgatgtgag
     1381 cttggacttg cattccctta tgatgggatg aagattgaac cctggctgaa ctttgttggc
     1441 tgtggaagag gccaatccta tggcagagca ttcagaatgt caatgagtaa ttcattatta
     1501 tccaaagcat aggaaggctc tatgtttgta tatttctctt tgtcagaata cccctcaact
     1561 catttgctct aataaatttg actgggttga aaaattttcc cttttctgtc ttctggggaa
     1621 tagctaaaaa gcaggtcagg tcttcgtatc ccagtactcc aataagatca atggacataa
     1681 aacaatgcag atgcattgtc ttatatgtga acttctcaac ccccttccca ctgtcccatt
     1741 agtaggattc tctgagttct tgccagatct gacactggta ggttgaataa aggaactccc
     1801 actatgggga tgagttacag actgagacaa ctgaacaagt tactgaacaa gcatgggaca
     1861 atacagcaag agataaactt gcctgtccaa ccccaccttc cccccaagaa aacatacttc
     1921 caccttgcca atgtataagc tgggagtgga gaaagaaagt aattcattca tgtcatatct
     1981 catagaccct ctttttctgt atcccaatca gactcctttc catatatagc acccctgtcc
     2041 cacttgttta agtaggaatc tcctttttgg ctctaatttc actgaatatt ggtacttttg
     2101 tatccccaga tccttcaaca accttccctc tacctgtaca tgccaactca ttaccaccta
     2161 ccaaactaga ttttatttca gacactatgt atttaaagct tgagtataaa tggcacagtg
     2221 agtggtaatg atgtagtatc tgaaattcta gccctgaggt aaaacacttc agtgacagga
     2281 aaatagtaaa aaaaatgcat aagtactgtt gcagatgttg tacttccata ttgaaataaa
     2341 tatttatgtt tagaaaagca
//
